Article
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.
CNS & neurological disorders drug targets - 1 Jan 2023
Ivanov Ivan, Pacheva Iliyana, Yordanova Ralitsa, Sotkova Iglika, Galabova Fani, Gaberova Katerina, Panova Margarita, Gheneva Ina, Tsvetanova Tsvetelina, Noneva Katerina, Dimitrova Diana, Markov Stoyan, Sapundzhiev Nikolay, Bichev Stoyan, Savov Alexey
Abstract excerpt
BACKGROUND: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease with neurodevelopmental delay, motor, and speech regression, pronounced extrapyramidal syndrome, and sensory deficits due to TUBB4A mutation. In 2017, a severe variant was described in 16 Roma infants due to mutation in UFM1. OBJECTIVE: The objective of this study is to expand the clinical...
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